Table 2.
Association of aortic valve stenosis variants with other cardiovascular traits
| Bicuspid aortic valve | 208/25,139 | PALMD intergenic rs7543130 [A/C] | TEX41 intronic rs1830321 [T/C] | LPA intronic rs10455872 [G/A] | MYH6 missense rs387906656 [A/G] p.Arg721Trp | ||||
|---|---|---|---|---|---|---|---|---|---|
| OR (95% CI) | P value | OR (95% CI) | P value | OR (95% CI) | P value | OR (95% CI) | P value | ||
| Bicuspid aortic valve | 208/25,139 | 1.26 (0.99, 1.60) | 0.059 | 1.31 (1.03, 1.67) | 0.025 | 1.12 (0.72, 1.75) | 0.61 | 8.04 (3.36, 19.22) | 2.8 × 10−6 |
| Sweden-Stockholm | 275/1516 | 1.27 (1.06, 1.52) | 0.0098 | 1.20 (0.99, 1.46) | 0.063 | 1.02 (0.92, 1.12) | 0.77 | ||
| USA-Houston | 147/864 | 1.29 (0.99, 1.67) | 0.057 | 1.25 (0.97, 1.60) | 0.085 | 0.96 (0.51, 1.81) | 0.91 | ||
| USA-Boston | 452/1834 | 1.27 (1.09, 1.48) | 0.002 | 1.10 (0.95, 1.28) | 0.21 | 1.44 (1.08, 1.93) | 0.014 | ||
| USA-Michigan | 473/4730 | 1.31 (1.14, 1.51) | 1.2 × 10−4 | 1.00 (0.86, 1.16) | 0.97 | 1.19 (0.93, 1.54) | 0.17 | ||
| Combined BAV | 1555/33,883 | 1.28 (1.19, 1.39) | 6.6 × 10−10 | 1.12 (1.04, 1.22) | 5.3 × 10−3 | 1.07 (0.98, 1.16) | 0.13 | ||
| Atrial septal defect | 708/353,019 | 1.23 (1.07, 1.42) | 3.9 × 10−3 | 1.22 (1.06, 1.41) | 5.9 × 10−3 | 1.15 (0.87, 1.52) | 0.32 | 3.17 (1.47, 6.81) | 3.2 × 10−3 |
| Ventricular septal defect | 902/357,428 | 1.23 (1.07, 1.42) | 4.8 × 10−3 | 1.04 (0.90, 1.21) | 0.59 | 1.14 (0.84, 1.53) | 0.41 | 4.40 (2.14, 9.07) | 5.7 × 10−5 |
| Coronary artery disease | 37,782/318,845 | 1.00 (0.97, 1.02) | 0.74 | 1.05 (1.03, 1.08) | 9.3 × 10−5 | 1.28 (1.21, 1.34) | 2.4 × 10−22 | 1.21 (1.00, 1.48) | 0.056 |
| Phenotype (qtl) | N | β (SE) | P value | β (SE) | P value | β (SE) | P value | β (SE) | P value |
| Aortic root diameter | 19,513 | 0.065 (0.01) | 1.3 × 10−8 | −0.017 (0.02) | 0.16 | −0.052 (0.02) | 0.020 | −0.068 (0.08) | 0.40 |
Association of aortic valve stenosis variants with cardiovascular phenotypes is shown for Icelandic samples. Follow-up and joint analysis (combined BAV) is also provided for the association with BAV. The effect allele is the first allele in brackets [effect allele/non-effect allele]. The effect (β) for aortic root diameter is given in standardized units. Logistic (cc) or linear (qtl) regression analyses were used for association testing. Results from the different study groups were combined using a Mantel–Haenszel model
Cc case–control, Qtl quantitative trait, OR allelic odds ratio, 95% Cl 95% confidence interval, BAV bicuspid aortic valve, SE standard error